Canonical Allele Identifier: CA1190732237
Gene: CASQ2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115744827C= , CM000663.2:g.115744827C= GRCh38
NC_000001.10:g.116287448C= , CM000663.1:g.116287448C= GRCh37
NC_000001.9:g.116088971C= NCBI36
NG_008802.1:g.28979G= , LRG_404:g.28979G=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.43+1G= ENSP00000518226.1:n.43+1G=
ENST00000261448.6:c.319+1G= MANE Select ENSP00000261448.5:n.319+1G=
ENST00000261448.5:c.319+1G= ENSP00000261448.5:n.319+1G=
NM_001232.3:c.319+1G= , LRG_404t1:c.319+1G= NP_001223.2:n.319+1G=
NM_001232.4:c.319+1G= MANE Select NP_001223.2:n.319+1G=
Search 100 bp 5'
Search 100 bp 3'